Canonical Allele Identifier: CA2260784883

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094395_43094399delinsATGCT , CM000679.2:g.43094395_43094399delinsATGCT	GRCh38
NC_000017.10:g.41246412_41246416delinsATGCT , CM000679.1:g.41246412_41246416delinsATGCT	GRCh37
NC_000017.9:g.38499938_38499942delinsATGCT	NCBI36
NG_005905.2:g.123585_123589delinsAGCAT , LRG_292:g.123585_123589delinsAGCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1196_1200delinsAGCAT
ENST00000461574.2:c.1132_1136delinsAGCAT	ENSP00000417241.2:p.Ser378=
ENST00000470026.6:c.1132_1136delinsAGCAT	ENSP00000419274.2:p.Ser378=
ENST00000473961.6:c.1006_1010delinsAGCAT	ENSP00000420201.2:p.Ser336=
ENST00000476777.6:c.1129_1133delinsAGCAT	ENSP00000417554.2:p.Ser377=
ENST00000477152.6:c.1054_1058delinsAGCAT	ENSP00000419988.2:p.Ser352=
ENST00000478531.6:c.784+345_784+349delinsAGCAT	ENSP00000420412.2:n.784+345_784+349delinsAGCAT
ENST00000489037.2:c.1054_1058delinsAGCAT	ENSP00000420781.2:p.Ser352=
ENST00000493919.6:c.646+345_646+349delinsAGCAT	ENSP00000418819.2:n.646+345_646+349delinsAGCAT
ENST00000494123.6:c.1132_1136delinsAGCAT	ENSP00000419103.2:p.Ser378=
ENST00000497488.2:c.244_248delinsAGCAT	ENSP00000418986.2:p.Ser82=
ENST00000618469.2:c.1132_1136delinsAGCAT	ENSP00000478114.2:p.Ser378=
ENST00000634433.2:c.1009_1013delinsAGCAT	ENSP00000489431.2:p.Ser337=
ENST00000644379.2:c.1132_1136delinsAGCAT	ENSP00000496570.2:p.Ser378=
ENST00000644555.2:c.646+345_646+349delinsAGCAT	ENSP00000494614.2:n.646+345_646+349delinsAGCAT
ENST00000652672.2:c.991_995delinsAGCAT	ENSP00000498906.2:p.Ser331=
ENST00000484087.6:c.664+345_664+349delinsAGCAT	ENSP00000419481.2:n.664+345_664+349delinsAGCAT
ENST00000700182.1:c.706+345_706+349delinsAGCAT	ENSP00000514849.1:n.706+345_706+349delinsAGCAT
ENST00000700183.1:c.*1140_*1144delinsAGCAT	ENSP00000514850.1:n.*1140_*1144delinsAGCAT
ENST00000357654.9:c.1132_1136delinsAGCAT MANE Select	ENSP00000350283.3:p.Ser378=
ENST00000471181.7:c.1132_1136delinsAGCAT	ENSP00000418960.2:p.Ser378=
ENST00000652672.1:c.991_995delinsAGCAT	ENSP00000498906.1:p.Ser331=
ENST00000352993.7:c.670+1447_670+1451delinsAGCAT	ENSP00000312236.5:n.670+1447_670+1451delinsAGCAT
ENST00000354071.7:c.1132_1136delinsAGCAT	ENSP00000326002.7:p.Ser378=
ENST00000357654.7:c.1132_1136delinsAGCAT	ENSP00000350283.3:p.Ser378=
ENST00000412061.3:c.483_487delinsAGCAT
ENST00000461221.5:c.*915_*919delinsAGCAT	ENSP00000418548.1:n.*915_*919delinsAGCAT
ENST00000468300.5:c.787+345_787+349delinsAGCAT	ENSP00000417148.1:n.787+345_787+349delinsAGCAT
ENST00000470026.5:c.1132_1136delinsAGCAT	ENSP00000419274.1:p.Ser378=
ENST00000471181.6:c.1132_1136delinsAGCAT	ENSP00000418960.2:p.Ser378=
ENST00000473961.5:c.729_733delinsAGCAT
ENST00000477152.5:c.1054_1058delinsAGCAT	ENSP00000419988.1:p.Ser352=
ENST00000478531.5:c.784+345_784+349delinsAGCAT	ENSP00000420412.1:n.784+345_784+349delinsAGCAT
ENST00000484087.5:c.409+345_409+349delinsAGCAT	ENSP00000419481.1:n.409+345_409+349delinsAGCAT
ENST00000487825.5:c.412+345_412+349delinsAGCAT	ENSP00000418212.1:n.412+345_412+349delinsAGCAT
ENST00000491747.6:c.787+345_787+349delinsAGCAT	ENSP00000420705.2:n.787+345_787+349delinsAGCAT
ENST00000492859.5:c.*1068_*1072delinsAGCAT	ENSP00000420253.1:n.*1068_*1072delinsAGCAT
ENST00000493795.5:c.991_995delinsAGCAT	ENSP00000418775.1:p.Ser331=
ENST00000493919.5:c.646+345_646+349delinsAGCAT	ENSP00000418819.1:n.646+345_646+349delinsAGCAT
ENST00000494123.5:c.1132_1136delinsAGCAT	ENSP00000419103.1:p.Ser378=
ENST00000497488.1:c.244_248delinsAGCAT	ENSP00000418986.1:p.Ser82=
ENST00000586385.5:c.5-30448_5-30444delinsAGCAT	ENSP00000465818.1:n.5-30448_5-30444delinsAGCAT
ENST00000591534.5:c.-43-19878_-43-19874delinsAGCAT	ENSP00000467329.1:n.-43-19878_-43-19874delinsAGCAT
ENST00000591849.5:c.-99+30872_-99+30876delinsAGCAT	ENSP00000465347.1:n.-99+30872_-99+30876delinsAGCAT
ENST00000634433.1:c.1009_1013delinsAGCAT	ENSP00000489431.1:p.Ser337=
NM_007294.3:c.1132_1136delinsAGCAT , LRG_292t1:c.1132_1136delinsAGCAT	NP_009225.1:p.Ser378=
NM_007297.3:c.991_995delinsAGCAT	NP_009228.2:p.Ser331=
NM_007298.3:c.787+345_787+349delinsAGCAT	NP_009229.2:n.787+345_787+349delinsAGCAT
NM_007299.3:c.787+345_787+349delinsAGCAT	NP_009230.2:n.787+345_787+349delinsAGCAT
NM_007300.3:c.1132_1136delinsAGCAT	NP_009231.2:p.Ser378=
NR_027676.1:n.1268_1272delinsAGCAT
NM_007294.4:c.1132_1136delinsAGCAT MANE Select	NP_009225.1:p.Ser378=
NM_007297.4:c.991_995delinsAGCAT	NP_009228.2:p.Ser331=
NM_007299.4:c.787+345_787+349delinsAGCAT	NP_009230.2:n.787+345_787+349delinsAGCAT
NM_007300.4:c.1132_1136delinsAGCAT	NP_009231.2:p.Ser378=
NR_027676.2:n.1309_1313delinsAGCAT